Variant report

Variant	rs73090355
Chromosome Location	chr1:214452578-214452579
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:214449888-214452598	K562	blood:	n/a	n/a
2	POLR2A	chr1:214452477-214452658	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214450142..214452854-chr1:214468373..214471218,3	K562	blood:
2	chr1:214450853..214454119-chr1:214469233..214472526,4	K562	blood:
3	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:
4	chr1:214452363..214454335-chr1:214775239..214777094,2	K562	blood:
5	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:
6	chr1:214451440..214454352-chr1:214497231..214500800,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN14-2	chr1:214452057-214452637	XLOC_001200

No data

Variant related genes	Relation type
SMYD2	TF binding region
ENSG00000117724	Chromatin interaction
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1353719	1.00[EUR][1000 genomes]
rs17022459	1.00[EUR][1000 genomes]
rs34697741	1.00[EUR][1000 genomes]
rs6689485	1.00[EUR][1000 genomes]
rs73090347	1.00[EUR][1000 genomes]
rs73090351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517275	1.00[EUR][1000 genomes]
rs7526980	1.00[EUR][1000 genomes]

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214437400-214453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:214445000-214453200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:214445200-214453000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:214445200-214453200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:214445600-214453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:214445600-214453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:214445600-214453400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:214445800-214453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:214445800-214453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:214445800-214453200	Weak transcription	Fetal Lung	lung
11	chr1:214448200-214453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:214449000-214453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:214449000-214453200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:214449200-214453200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:214449400-214453200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:214449600-214453200	Weak transcription	Fetal Intestine Large	intestine
17	chr1:214449600-214453400	Weak transcription	K562	blood
18	chr1:214449600-214453600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:214449600-214453600	Weak transcription	Stomach Mucosa	stomach
20	chr1:214450200-214453200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:214450200-214453400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:214450200-214453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:214450400-214452600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:214450600-214452600	Flanking Active TSS	Fetal Heart	heart
25	chr1:214450600-214453200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:214450600-214453200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:214450600-214453400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:214450800-214453600	Weak transcription	Right Ventricle	heart
29	chr1:214451000-214453400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:214451200-214453600	Weak transcription	HSMMtube	muscle
31	chr1:214451400-214452600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:214451400-214453200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:214451800-214452600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:214451800-214452600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:214451800-214452600	Enhancers	Fetal Thymus	thymus
36	chr1:214451800-214452600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:214452000-214452600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:214452000-214452600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:214452000-214452600	Weak transcription	Fetal Brain Female	brain
40	chr1:214452000-214453200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:214452000-214453200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:214452000-214453200	Enhancers	HepG2	liver
43	chr1:214452000-214453400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:214452000-214453600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:214452200-214453200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:214452200-214453200	Weak transcription	Brain Germinal Matrix	brain
47	chr1:214452200-214453200	Weak transcription	Fetal Brain Male	brain
48	chr1:214452200-214453400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:214452200-214453400	Weak transcription	Osteobl	bone
50	chr1:214452200-214453600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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